1. Clinical impact of genomic testing in patients with suspected monogenic kidney disease
- Author
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Rigan Tytherleigh, Yael Prawer, Peter G. Kerr, Clara Gaff, Matthew F. Hunter, John Whitlam, Susan M. White, Ella J Wilkins, Sebastian Lunke, Kathleen Nicholls, Kirsty West, Elly Lynch, Mathew Wallis, Belinda Creighton, Chirag Patel, Giulia M Valente, Andrew Talbot, Elizabeth Donaldson, Emma I. Krzesinski, Louise Wardrop, Jessica Ryan, Melissa Martyn, Kushani Jayasinghe, Anna Jarmolowicz, Andrew Mallett, Zornitza Stark, Alison H. Trainer, Catherine Quinlan, Emily J See, and Lilian Johnstone
- Subjects
Adult ,Proband ,medicine.medical_specialty ,Medical laboratory ,Article ,Internal medicine ,Exome Sequencing ,medicine ,Humans ,Exome ,Genetic Testing ,Child ,Genetics (clinical) ,Exome sequencing ,medicine.diagnostic_test ,business.industry ,genetic kidney disease ,Australia ,medicine.disease ,Human genetics ,Cohort ,Kidney Diseases ,Personalized medicine ,Renal biopsy ,business ,chronic kidney disease ,Kidney disease - Abstract
Purpose To determine the diagnostic yield and clinical impact of exome sequencing (ES) in patients with suspected monogenic kidney disease. Methods We performed clinically accredited singleton ES in a prospectively ascertained cohort of 204 patients assessed in multidisciplinary renal genetics clinics at four tertiary hospitals in Melbourne, Australia. Results ES identified a molecular diagnosis in 80 (39%) patients, encompassing 35 distinct genetic disorders. Younger age at presentation was independently associated with an ES diagnosis (p
- Published
- 2021